NM_006736.6(DNAJB2):c.299A>G (p.Glu100Gly) AND Neuronopathy, distal hereditary motor, autosomal recessive 5

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 9, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001237222.7

Allele description [Variation Report for NM_006736.6(DNAJB2):c.299A>G (p.Glu100Gly)]

NM_006736.6(DNAJB2):c.299A>G (p.Glu100Gly)

Gene:

DNAJB2:DnaJ heat shock protein family (Hsp40) member B2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_006736.6(DNAJB2):c.299A>G (p.Glu100Gly)

HGVS:

NC_000002.12:g.219282008A>G
NG_029553.1:g.7691A>G
NM_001039550.2:c.299A>G
NM_006736.6:c.299A>GMANE SELECT
NP_001034639.1:p.Glu100Gly
NP_006727.2:p.Glu100Gly
NC_000002.11:g.220146730A>G
NM_001039550.1:c.299A>G

Protein change:

E100G

Links:

dbSNP: rs1233939998

NCBI 1000 Genomes Browser:

rs1233939998

Molecular consequence:

NM_001039550.2:c.299A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006736.6:c.299A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neuronopathy, distal hereditary motor, autosomal recessive 5
Synonyms:: Spinal muscular atrophy, distal, autosomal recessive, 5; Young adult-onset distal hereditary motor neuropathy; NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 5
Identifiers:: MONDO: MONDO:0013947; MedGen: C4749918; Orphanet: 314485; OMIM: 614881

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001409974	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 9, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001409974

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 9, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001409974.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with DNAJB2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glycine at codon 100 of the DNAJB2 protein (p.Glu100Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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